Mutagenetix > Incidental Mutation

Incidental Mutation 'R7167:Plau'

558008

Institutional Source

Beutler Lab

Gene Symbol

Plau

Ensembl Gene

ENSMUSG00000021822

Gene Name

plasminogen activator, urokinase

Synonyms

u-PA, uPA, urokinase-type plasminogen activator

MMRRC Submission

045228-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7167 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20886728-20893453 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 20889518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 194 (F194L)

Ref Sequence

ENSEMBL: ENSMUSP00000022368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022368] [ENSMUST00000224141]

AlphaFold

P06869

PDB Structure

Structure-based engineering of species selectivity in the uPA-uPAR interaction [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022368
AA Change: F194L

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022368
Gene: ENSMUSG00000021822
AA Change: F194L

Domain	Start	End	E-Value	Type
EGF	10	64	3.23e0	SMART
KR	69	154	3.2e-36	SMART
Tryp_SPc	179	421	3.53e-84	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000224141

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes show occasional fibrin deposits in non-healing ulcerations and reduced neointima formation after arterial injury. They are susceptible to thrombosis after traumatic or inflammatory challenge and appear to be immunologically hyporesponsive displaying characteristics of functional anergy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,624,930 (GRCm39)	V436A	probably benign	Het
Abcc5	T	C	16: 20,224,251 (GRCm39)	T111A	possibly damaging	Het
Acsbg2	T	A	17: 57,164,000 (GRCm39)	D203V	probably benign	Het
Alpk2	G	T	18: 65,440,049 (GRCm39)	T448K	probably benign	Het
Arhgef2	A	G	3: 88,551,179 (GRCm39)	N780S	possibly damaging	Het
Atxn2l	T	C	7: 126,098,394 (GRCm39)	N252S	possibly damaging	Het
Bmpr1b	A	T	3: 141,568,841 (GRCm39)	L163Q	probably benign	Het
Clca3a2	T	C	3: 144,803,545 (GRCm39)	R100G	probably benign	Het
Col2a1	A	G	15: 97,898,337 (GRCm39)	I79T	unknown	Het
Csmd1	A	G	8: 15,976,524 (GRCm39)	V2898A	probably benign	Het
Cux1	G	A	5: 136,338,895 (GRCm39)		probably null	Het
Cyp2u1	A	G	3: 131,096,773 (GRCm39)	S2P	probably benign	Het
Daam1	C	A	12: 72,035,678 (GRCm39)	H958N	probably damaging	Het
Dnah7a	C	T	1: 53,542,935 (GRCm39)	V2412I	probably benign	Het
Ergic2	T	C	6: 148,108,133 (GRCm39)	R2G	probably damaging	Het
Fat2	T	C	11: 55,175,827 (GRCm39)	T1629A	possibly damaging	Het
Ftl1	T	A	7: 45,109,202 (GRCm39)		probably benign	Het
Fut8	T	C	12: 77,495,406 (GRCm39)	V332A	possibly damaging	Het
Gm28363	T	C	1: 117,655,119 (GRCm39)	S113P	probably damaging	Het
Hfe	A	T	13: 23,892,052 (GRCm39)	V104E	probably damaging	Het
Ifih1	A	T	2: 62,429,240 (GRCm39)	N899K	probably benign	Het
Krt75	A	G	15: 101,476,750 (GRCm39)	S380P	possibly damaging	Het
Meiob	T	G	17: 25,055,419 (GRCm39)	F409V	probably damaging	Het
Mkrn2os	A	T	6: 115,562,474 (GRCm39)	I163N	probably damaging	Het
Nanos1	G	T	19: 60,745,046 (GRCm39)	G115W	probably damaging	Het
Naprt	C	T	15: 75,764,461 (GRCm39)	A276T	probably damaging	Het
Oas1e	G	T	5: 120,933,487 (GRCm39)	T26N	probably benign	Het
Oog2	T	G	4: 143,921,745 (GRCm39)	D218E	probably benign	Het
Optn	T	C	2: 5,047,294 (GRCm39)	N207S	probably benign	Het
Or13a20	T	A	7: 140,232,466 (GRCm39)	C191*	probably null	Het
Or1l8	T	C	2: 36,817,533 (GRCm39)	I198V	probably benign	Het
Or4g16	T	C	2: 111,136,793 (GRCm39)	M81T	probably benign	Het
Or4p18	A	G	2: 88,232,552 (GRCm39)	V242A	possibly damaging	Het
Or6c63-ps1	T	G	10: 128,899,141 (GRCm39)	Q245P	probably damaging	Het
Or6c66b	T	C	10: 129,376,607 (GRCm39)	L67P	possibly damaging	Het
Or8g4	T	C	9: 39,661,865 (GRCm39)	F61S	probably damaging	Het
Oxnad1	G	T	14: 31,822,976 (GRCm39)	E236*	probably null	Het
Pcdha3	G	A	18: 37,080,046 (GRCm39)	A263T	probably damaging	Het
Pex13	A	T	11: 23,605,472 (GRCm39)	W253R	possibly damaging	Het
Pip5k1b	T	A	19: 24,374,433 (GRCm39)	E49D	probably benign	Het
Ppm1n	A	G	7: 19,013,666 (GRCm39)	L95S	probably damaging	Het
Pramel40	G	A	5: 94,464,984 (GRCm39)	A457T	possibly damaging	Het
Radil	G	T	5: 142,471,260 (GRCm39)		probably null	Het
Ralgapa2	C	T	2: 146,190,374 (GRCm39)	M1266I	probably benign	Het
Reln	A	T	5: 22,147,618 (GRCm39)	L2444Q	probably damaging	Het
Rims2	T	C	15: 39,300,473 (GRCm39)	V260A	probably benign	Het
Rnase2b	T	A	14: 51,400,222 (GRCm39)	V101E	probably damaging	Het
Rtp3	T	A	9: 110,815,772 (GRCm39)	T198S	probably benign	Het
Shisal2b	A	G	13: 105,000,166 (GRCm39)	V19A	probably damaging	Het
Smad3	T	A	9: 63,573,435 (GRCm39)	D201V	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Spata7	T	G	12: 98,630,555 (GRCm39)	F371C	probably damaging	Het
Stag1	T	G	9: 100,827,942 (GRCm39)	N990K	probably benign	Het
Tbx18	C	T	9: 87,589,883 (GRCm39)	A352T	probably damaging	Het
Thada	C	T	17: 84,538,391 (GRCm39)	R1539Q	probably benign	Het
Thrap3	A	C	4: 126,078,920 (GRCm39)		probably benign	Het
Tnks	G	A	8: 35,316,458 (GRCm39)	T887M	probably damaging	Het
Trap1	A	C	16: 3,870,792 (GRCm39)	V393G	probably damaging	Het
Trpm4	A	G	7: 44,977,143 (GRCm39)		probably null	Het
Trrap	G	T	5: 144,776,424 (GRCm39)	G3007C	probably benign	Het
U2surp	A	T	9: 95,363,726 (GRCm39)	N611K	probably damaging	Het
Usp12	A	G	5: 146,705,745 (GRCm39)		probably null	Het
Vmn1r200	A	G	13: 22,579,487 (GRCm39)	T97A	possibly damaging	Het
Vmn2r110	C	T	17: 20,794,441 (GRCm39)	V743I	probably benign	Het
Vps50	C	T	6: 3,600,256 (GRCm39)	T905M	probably damaging	Het
Wdr48	T	A	9: 119,736,855 (GRCm39)		probably null	Het
Zfp446	C	T	7: 12,712,049 (GRCm39)		probably benign	Het
Zfr	T	C	15: 12,181,015 (GRCm39)	S1012P	probably benign	Het

Other mutations in Plau

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00766:Plau	APN	14	20,888,635 (GRCm39)	missense	probably benign	0.05
IGL01831:Plau	APN	14	20,887,838 (GRCm39)	splice site	probably benign
IGL02902:Plau	APN	14	20,889,965 (GRCm39)	missense	possibly damaging	0.63
R0426:Plau	UTSW	14	20,892,382 (GRCm39)	missense	probably benign	0.23
R2006:Plau	UTSW	14	20,888,760 (GRCm39)	splice site	probably null
R2357:Plau	UTSW	14	20,888,683 (GRCm39)	missense	probably damaging	1.00
R4089:Plau	UTSW	14	20,891,134 (GRCm39)	missense	probably damaging	1.00
R4866:Plau	UTSW	14	20,887,872 (GRCm39)	missense	probably benign	0.05
R6737:Plau	UTSW	14	20,887,884 (GRCm39)	missense	probably damaging	0.98
R7615:Plau	UTSW	14	20,889,534 (GRCm39)	nonsense	probably null
R7687:Plau	UTSW	14	20,889,866 (GRCm39)	missense	probably damaging	1.00
R7775:Plau	UTSW	14	20,892,393 (GRCm39)	missense	probably benign	0.16
R7824:Plau	UTSW	14	20,892,393 (GRCm39)	missense	probably benign	0.16
R8200:Plau	UTSW	14	20,889,181 (GRCm39)	missense	possibly damaging	0.53
R8685:Plau	UTSW	14	20,889,627 (GRCm39)	splice site	probably benign
R9007:Plau	UTSW	14	20,889,613 (GRCm39)	missense	probably damaging	1.00
R9077:Plau	UTSW	14	20,889,949 (GRCm39)	missense	probably benign	0.09
Z1176:Plau	UTSW	14	20,889,549 (GRCm39)	missense	probably damaging	1.00
Z1177:Plau	UTSW	14	20,891,082 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATTGTCACTGCAGGAGGGATG -3'
(R):5'- TGACATTGTAACCGTCCATAGGG -3'

Sequencing Primer
(F):5'- AGGTGTGCCTCAGAGACTTC -3'
(R):5'- GAAGGAGGAAGGACAGTCTTG -3'

Posted On

2019-06-26